Combined deficiency of beta-galactosidase and neuraminidase: three affected siblings in a French family.
Three affected siblings from France have been described with a combined deficiency of beta-galactosidase and neuraminidase. Oligosaccharides were found in urine and the enzyme activities determined in leukocytes and cultured fibroblasts. Further characterization of the defect in this family is needed.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology; D002478:Cells, Cultured; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D006867:Hydrolases / Q000097:blood; D007787:Lactose Intolerance / Q000201:enzymology / Q000235:genetics*; D007962:Leukocytes / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D009439:Neuraminidase / Q000172:deficiency*
D006867:Hydrolases; D009439:Neuraminidase